Results for the protein: Q15465

Results for the Protein: Q15465

6094283

6469

SHH

NCBI, UniProt

SHH_HUMAN RecName: Full=Sonic hedgehog protein; Short=SHH; AltName: Full=HHG-1; Contains: RecName: Full=Sonic hedgehog protein N-product; Contains: RecName: Full=Sonic hedgehog protein C-product; Flags: Precursor

Known Diseases associated with this Protein:
  HOLOPROSENCEPHALY 3
  HOLOPROSENCEPHALY 3 (HPE3)
  SCHIZENCEPHALY, INCLUDED
  SINGLE CENTRAL MAXILLARY INCISOR, INCLUDED
  SOLITARY MEDIAN MAXILLARY CENTRAL INCISOR
  SOLITARY MEDIAN MAXILLARY CENTRAL INCISOR (SMMCI)

97

4

17

0

84

Tips:

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Default View: HH_signal - pfam01085 Hint - pfam01079 HintN - smart00306 Hint - cd00081 HintC - smart00305	Swiss-Prot Protein: Q15465 Identical to: NP_000184 Default View:

Domains found on the Protein

Domain ↕	CD Accession ↕	E-Value ↕	Start ↕	End ↕
HH_signal	pfam01085	3e-115	39	184
Hint	pfam01079	9.1e-119	187	448
HintN	smart00306	4.2e-32	197	319
HintC	smart00305	2.7e-07	324	369

Table of Mutations found on the Protein

Source ↕	Mut_ID ↕	Class ↕	HGVS ↕	Disease ↕
Swiss-Prot	VAR_023806	Disease	p.ALA110ASP	Holoprosencephaly 3 (HPE3)
Swiss-Prot	VAR_062639	Disease	p.ALA376ASP	Holoprosencephaly 3 (HPE3)
Swiss-Prot	VAR_062627	Disease	p.ALA275GLU	Holoprosencephaly 3 (HPE3)
Swiss-Prot	VAR_062601	Disease	p.ALA110THR	Holoprosencephaly 3 (HPE3)
Swiss-Prot	VAR_009169	Disease	p.ALA226THR	Holoprosencephaly 3 (HPE3)
Swiss-Prot	VAR_039894	Disease	p.ALA373THR	Holoprosencephaly 3 (HPE3)
Swiss-Prot	VAR_009174	Disease	p.ALA383THR	Holoprosencephaly 3 (HPE3)
Swiss-Prot	VAR_062642	Polymorphism	p.ALA391THR	N/A
Swiss-Prot	VAR_062632	Disease	p.ALA346VAL	Holoprosencephaly 3 (HPE3)
Swiss-Prot	VAR_062630	Disease	p.ARG310CYS	Holoprosencephaly 3 (HPE3)
Swiss-Prot	VAR_062621	Disease	p.ARG232GLY	Holoprosencephaly 3 (HPE3)
Swiss-Prot	VAR_062605	Disease	p.ARG144PRO	Holoprosencephaly 3 (HPE3)
Swiss-Prot	VAR_023813	Disease	p.ARG381PRO	Holoprosencephaly 3 (HPE3)
Swiss-Prot	VAR_062631	Disease	p.ARG321SER	Holoprosencephaly 3 (HPE3)
Swiss-Prot	VAR_023804	Disease	p.ARG6THR	Holoprosencephaly 3 (HPE3)
Swiss-Prot	VAR_009165	Disease	p.ASN115LYS	Holoprosencephaly 3 (HPE3)
Swiss-Prot	VAR_062606	Disease	p.ASP147ASN	Holoprosencephaly 3 (HPE3)
Swiss-Prot	VAR_009167	Disease	p.ASP222ASN	Holoprosencephaly 3 (HPE3)
Swiss-Prot	VAR_062610	Disease	p.ASP171HIS	Holoprosencephaly 3 (HPE3)
Swiss-Prot	VAR_062596	Disease	p.ASP83VAL	Holoprosencephaly 3 (HPE3)
Swiss-Prot	VAR_009163	Disease	p.ASP88VAL	Holoprosencephaly 3 (HPE3)
Swiss-Prot	VAR_062598	Disease	p.CYS102ARG	Holoprosencephaly 3 (HPE3)
Swiss-Prot	VAR_062611	Disease	p.CYS183ARG	Holoprosencephaly 3 (HPE3)
Swiss-Prot	VAR_039892	Disease	p.CYS183PHE	Holoprosencephaly 3 (HPE3)
Swiss-Prot	VAR_062617	Disease	p.CYS198PHE	Holoprosencephaly 3 (HPE3)
Swiss-Prot	VAR_062618	Disease	p.CYS198SER	Holoprosencephaly 3 (HPE3)
Swiss-Prot	VAR_062599	Disease	p.CYS102TYR	Holoprosencephaly 3 (HPE3)
Swiss-Prot	VAR_062612	Disease	p.CYS183TYR	Holoprosencephaly 3 (HPE3)
Swiss-Prot	VAR_062636	Disease	p.CYS363TYR	Holoprosencephaly 3 (HPE3)
Swiss-Prot	VAR_009164	Disease	p.GLN100HIS	Holoprosencephaly 3 (HPE3)
Swiss-Prot	VAR_009166	Disease	p.GLU188GLN	Holoprosencephaly 3 (HPE3)
Swiss-Prot	VAR_062603	Disease	p.GLU136LYS	Holoprosencephaly 3 (HPE3)
Swiss-Prot	VAR_062595	Disease	p.GLU53LYS	Holoprosencephaly 3 (HPE3)
Swiss-Prot	VAR_039888	Disease	p.GLY27ALA	Holoprosencephaly 3 (HPE3)
Swiss-Prot	VAR_062629	Polymorphism	p.GLY296ALA	N/A
Swiss-Prot	VAR_003619	Disease	p.GLY31ARG	Holoprosencephaly 3 (HPE3)
Swiss-Prot	VAR_062648	Polymorphism	p.GLY456ARG	N/A
Swiss-Prot	VAR_062604	Disease	p.GLY143ASP	Holoprosencephaly 3 (HPE3)
Swiss-Prot	VAR_009172	Disease	p.GLY290ASP	Holoprosencephaly 3 (HPE3)
Swiss-Prot	VAR_062615	Disease	p.GLY196GLU	Holoprosencephaly 3 (HPE3)
Swiss-Prot	VAR_062616	Disease	p.GLY197VAL	Holoprosencephaly 3 (HPE3)
Swiss-Prot	VAR_062620	Disease	p.GLY231VAL	Holoprosencephaly 3 (HPE3)
Swiss-Prot	VAR_062638	Disease	p.HIS374ARG	Holoprosencephaly 3 (HPE3)
Swiss-Prot	VAR_039891	Disease	p.HIS140GLN	Holoprosencephaly 3 (HPE3)
Swiss-Prot	VAR_039890	Disease	p.HIS140PRO	Holoprosencephaly 3 (HPE3)
Swiss-Prot	VAR_039889	Disease	p.ILE111ASN	Holoprosencephaly 3 (HPE3)
Swiss-Prot	VAR_062626	Disease	p.ILE255ASN	Holoprosencephaly 3 (HPE3)
Swiss-Prot	VAR_017883	Disease	p.ILE111PHE	Solitary median maxillary central incisor (SMMCI)
Swiss-Prot	VAR_062597	Disease	p.ILE84PHE	Holoprosencephaly 3 (HPE3)
Swiss-Prot	VAR_023812	Disease	p.ILE354THR	Holoprosencephaly 3 (HPE3)
Swiss-Prot	VAR_062600	Disease	p.LEU109PHE	Holoprosencephaly 3 (HPE3)
Swiss-Prot	VAR_062592	Disease	p.LEU17PRO	Holoprosencephaly 3 (HPE3)
Swiss-Prot	VAR_062619	Disease	p.LEU218PRO	Holoprosencephaly 3 (HPE3)
Swiss-Prot	VAR_062622	Disease	p.LEU234PRO	Holoprosencephaly 3 (HPE3)
Swiss-Prot	VAR_023809	Disease	p.LEU271PRO	Holoprosencephaly 3 (HPE3)
Swiss-Prot	VAR_062641	Disease	p.LEU382PRO	Holoprosencephaly 3 (HPE3)
Swiss-Prot	VAR_062594	Disease	p.LEU39PRO	Holoprosencephaly 3 (HPE3)
Swiss-Prot	VAR_062609	Disease	p.PHE170CYS	Holoprosencephaly 3 (HPE3)
Swiss-Prot	VAR_062624	Disease	p.PHE241LEU	Holoprosencephaly 3 (HPE3)
Swiss-Prot	VAR_062640	Disease	p.PHE377SER	Holoprosencephaly 3 (HPE3)
Swiss-Prot	VAR_062625	Disease	p.PHE241VAL	Holoprosencephaly 3 (HPE3)
Swiss-Prot	VAR_009176	Disease	p.PRO424ALA	Holoprosencephaly 3 (HPE3)
Swiss-Prot	VAR_062634	Disease	p.PRO347ARG	Holoprosencephaly 3 (HPE3)
Swiss-Prot	VAR_023811	Disease	p.PRO347GLN	Holoprosencephaly 3 (HPE3)
Swiss-Prot	VAR_062593	Disease	p.PRO26LEU	Holoprosencephaly 3 (HPE3)
Swiss-Prot	VAR_062633	Disease	p.PRO347LEU	Holoprosencephaly 3 (HPE3)
Swiss-Prot	VAR_062608	Disease	p.SER156ARG	Holoprosencephaly 3 (HPE3)
Swiss-Prot	VAR_009170	Disease	p.SER236ARG	Holoprosencephaly 3 (HPE3)
Swiss-Prot	VAR_062623	Disease	p.SER236ASN	Holoprosencephaly 3 (HPE3)
Swiss-Prot	VAR_062613	Disease	p.SER184LEU	Holoprosencephaly 3 (HPE3)
Swiss-Prot	VAR_062635	Disease	p.SER362LEU	Holoprosencephaly 3 (HPE3)
Swiss-Prot	VAR_009177	Disease	p.SER436LEU	Holoprosencephaly 3 (HPE3)
Swiss-Prot	VAR_062628	Disease	p.SER280TRP	Holoprosencephaly 3 (HPE3)
Swiss-Prot	VAR_062646	Polymorphism	p.THR416ALA	N/A
Swiss-Prot	VAR_023807	Disease	p.THR150ARG	Holoprosencephaly 3 (HPE3)
Swiss-Prot	VAR_039893	Disease	p.THR267ILE	Holoprosencephaly 3 (HPE3)
Swiss-Prot	VAR_062607	Disease	p.THR150LYS	Holoprosencephaly 3 (HPE3)
Swiss-Prot	VAR_003621	Disease	p.TRP117ARG	Holoprosencephaly 3 (HPE3)
Swiss-Prot	VAR_003620	Disease	p.TRP117GLY	Holoprosencephaly 3 (HPE3)
Swiss-Prot	VAR_062647	Disease	p.TYR435ASN	Holoprosencephaly 3 (HPE3)
Swiss-Prot	VAR_062637	Disease	p.TYR364CYS	Holoprosencephaly 3 (HPE3)
Swiss-Prot	VAR_023810	Disease	p.VAL332ALA	Solitary median maxillary central incisor (SMMCI)
Swiss-Prot	VAR_009168	Disease	p.VAL224GLU	Holoprosencephaly 3 (HPE3)
Swiss-Prot	VAR_062602	Disease	p.VAL124MET	Holoprosencephaly 3 (HPE3)
OMIM	600725.0007	Disease	p.ALA226THR	HOLOPROSENCEPHALY 3
OMIM	600725.0010	Disease	p.ALA384THR	HOLOPROSENCEPHALY 3
OMIM	600725.0020	Disease	p.ASN115LYS	HOLOPROSENCEPHALY 3
OMIM	600725.0015	Disease	p.ASP88VAL	HOLOPROSENCEPHALY 3
OMIM	600725.0002	Disease	p.GLN100TER	HOLOPROSENCEPHALY 3
OMIM	600725.0017	Disease	p.GLU256TER	HOLOPROSENCEPHALY 3
OMIM	600725.0009	Disease	p.GLU284TER	HOLOPROSENCEPHALY 3
OMIM	600725.0001	Disease	p.GLY31ARG	HOLOPROSENCEPHALY 3
OMIM	600725.0011	Disease	p.GLY290ASP	HOLOPROSENCEPHALY 3\|\|SCHIZENCEPHALY, INCLUDED
OMIM	600725.0014	Disease	p.ILE111PHE	SOLITARY MEDIAN MAXILLARY CENTRAL INCISOR
OMIM	600725.0003	Disease	p.LYS105TER	HOLOPROSENCEPHALY 3
OMIM	600725.0012	Disease	p.PRO424ALA	HOLOPROSENCEPHALY 3
OMIM	600725.0005	Disease	p.TRP117ARG	HOLOPROSENCEPHALY 3
OMIM	600725.0004	Disease	p.TRP117GLY	HOLOPROSENCEPHALY 3
OMIM	600725.0019	Disease	p.TRP128TER	HOLOPROSENCEPHALY 3\|\|SINGLE CENTRAL MAXILLARY INCISOR, INCLUDED
OMIM	600725.0018	Disease	p.VAL332ALA	SOLITARY MEDIAN MAXILLARY CENTRAL INCISOR
OMIM	600725.0006	Disease	p.VAL224GLU	HOLOPROSENCEPHALY 3

Please Cite: Peterson, T.A., Adadey, A., Santana-Cruz ,I., Sun, Y., Winder A, Kann, M.G., (2010) DMDM: Domain Mapping of Disease Mutations. Bioinformatics 26 (19), 2458-2459.

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